Linked Data
ClinVar Variation Id:
746082
ClinVar RCV Id:
RCV000922666
dbSNP Id:
rs376689318
gnomAD v2:
19-50312836-G-T
gnomAD v3:
19-49809579-G-T
gnomAD v4:
19-49809579-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49809579G>T , CM000681.2:g.49809579G>T | GRCh38 |
| NC_000019.9:g.50312836G>T , CM000681.1:g.50312836G>T | GRCh37 |
| NC_000019.8:g.55004648G>T | NCBI36 |
| NG_032843.1:g.8732C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313777.9:c.493-4C>A MANE Select | ENSP00000313309.4:n.493-4C>A | |
| ENST00000313777.8:c.493-4C>A | ENSP00000313309.4:n.493-4C>A | |
| ENST00000377092.8:c.*233-4C>A | ENSP00000366296.5:n.*233-4C>A | |
| ENST00000525130.5:c.*147-4C>A | ENSP00000433492.1:n.*147-4C>A | |
| ENST00000525370.5:c.*147-4C>A | ENSP00000431420.1:n.*147-4C>A | |
| ENST00000527973.1:n.153-4C>A | ||
| ENST00000528043.5:c.*106-4C>A | ENSP00000431388.1:n.*106-4C>A | |
| ENST00000528094.5:c.385-4C>A | ENSP00000435177.1:n.385-4C>A | |
| ENST00000533418.5:c.343-4C>A | ENSP00000431731.1:n.343-4C>A | |
| NM_001171937.1:c.385-4C>A | NP_001165408.1:n.385-4C>A | |
| NM_025129.4:c.493-4C>A | NP_079405.2:n.493-4C>A | |
| NR_033269.1:n.612-4C>A | ||
| XM_006723399.2:c.493-4C>A | XP_006723462.1:n.493-4C>A | |
| XM_011527339.1:c.493-4C>A | XP_011525641.1:n.493-4C>A | |
| XM_011527340.1:c.343-4C>A | XP_011525642.1:n.343-4C>A | |
| XM_011527341.1:c.343-4C>A | XP_011525643.1:n.343-4C>A | |
| XM_011527342.1:c.322-4C>A | XP_011525644.1:n.322-4C>A | |
| XM_011527343.1:c.493-4C>A | XP_011525645.1:n.493-4C>A | |
| XM_011527344.1:c.493-321C>A | XP_011525646.1:n.493-321C>A | |
| XM_011527345.1:c.193-4C>A | XP_011525647.1:n.193-4C>A | |
| XM_011527346.1:c.193-4C>A | XP_011525648.1:n.193-4C>A | |
| XM_011527347.1:c.193-4C>A | XP_011525649.1:n.193-4C>A | |
| XR_935862.1:n.675-4C>A | ||
| XR_935863.1:n.953-4C>A | ||
| XR_936020.1:n.462G>T | ||
| NM_001352262.1:c.493-4C>A | NP_001339191.1:n.493-4C>A | |
| NM_001363663.1:c.343-4C>A | NP_001350592.1:n.343-4C>A | |
| XM_006723399.3:c.493-4C>A | XP_006723462.1:n.493-4C>A | |
| XM_011527341.2:c.343-4C>A | XP_011525643.1:n.343-4C>A | |
| XM_011527342.2:c.322-4C>A | XP_011525644.1:n.322-4C>A | |
| XM_017027320.1:c.493-4C>A | XP_016882809.1:n.493-4C>A | |
| XM_017027321.1:c.193-4C>A | XP_016882810.1:n.193-4C>A | |
| XM_017027322.2:c.343-4C>A | XP_016882811.1:n.343-4C>A | |
| XM_017027323.1:c.493-4C>A | XP_016882812.1:n.493-4C>A | |
| XM_024451729.1:c.322-4C>A | XP_024307497.1:n.322-4C>A | |
| XM_024451730.1:c.322-4C>A | XP_024307498.1:n.322-4C>A | |
| XR_001753764.1:n.675-4C>A | ||
| XR_001753765.1:n.675-4C>A | ||
| XR_002958363.1:n.675-4C>A | ||
| XR_002958364.1:n.675-4C>A | ||
| XR_002958365.1:n.675-4C>A | ||
| XR_936020.3:n.462G>T | ||
| NM_001171937.2:c.385-4C>A | NP_001165408.1:n.385-4C>A | |
| NM_001352262.2:c.493-4C>A | NP_001339191.1:n.493-4C>A | |
| NM_025129.5:c.493-4C>A MANE Select | NP_079405.2:n.493-4C>A | |
| NR_033269.2:n.594-4C>A |